R.R. MURZINA¹, A.S. KARUNAS², R.Ph. GATIYATULLIN³, Yu.Yu. FEDOROVA², E.K. KHUSNUTDINOVA², E.N. AKHMADEEVA³

¹Republican Children’s Clinical Hospital, 98 Stepan Kuvykin Str., Ufa, Russian Federation, 450106

²Institute of Biochemistry and Genetics of the Ufa Scientific Center of the Russian Academy of Sciences, 71 Oktyabrya Str., Ufa, Russian Federation, 450054

³Bashkir State Medical University, 3 Lenin Str., Ufa, Russian Federation, 450000

Murzina R.R. ― Cand. Med. Sc., allergist-immunologist of the allergy department, tel.: (347) 229-08-43, +7-905-002-05-67, e-mail: Gigi08@yandex.ru

Karunas A.S. ― D. Biol. Sc., Associate Professor, senior researcher of the Laboratory of Human Molecular Genetics, tel. (347) 235-60-88, e-mail: carunas@list.ru

Gatiyatullin R.Ph. ― D. Med. Sc., Professor of the Department of Hospital pediatrics with the course of an outpatient pediatrics, tel. (347) 255-73-26, e-mail: radikfidagi@mail.ru

Fedorova Yu.Yu. ― Cand. Biol. Sc., Rresearcher of the Laboratory of Molecular Human Genetics, tel. (347) 235-60-88, e-mail: fedorova-y@yandex.ru

Khusnutdinova E.K. ― D. Biol. Sc., Professor, Head of the Laboratory of Molecular Human Genetics, tel. (347) 235-60-88, e-mail: ekkh@anrb.ru

Akhmadeeva E.N. ― D. Med. Sc., Professor, Head of the Department of Hospital Pediatrics, tel. (347) 255-73-26, e-mail: pediatr@ufanet.ru

The analysis of polymorphic variants rs1799929, rs1799930, rs1799931 of gene arylamine-N-acetyltransferase 2 (NAT2) in children with bronchial asthma and healthy individuals of different ethnic backgrounds living in the Republic of Bashkortostan was performed. The association of the homozygous genotype rs1799929 * T/T with medium-severe bronchial asthma in children was found. The association of genotype rs1799930*A/A with moderate/significant decrease in VC and FEV1 in patients with bronchial asthma and association of allele rs1799930*A (22,5%) with the risk of asthma exacerbation according to the daily variability of PEF were revealed.

Key words: bronchial asthma, polymorphic variant, gene arylamine-N-acetyltransferase 2.

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